Brief Report: A Case of Autism with Interstitial Deletion of Chromosome 13

Overview

Journal J Autism Dev Disord

Publisher Springer

Date 2001 Jul 14

PMID 11450821

Citations 9

Authors

M M Steele

V M Siu

Y S Fan

Affiliations

Soon will be listed here.

Abstract

A case of an 18-year-old male who meets the DSM-IV criteria for autistic disorder and borderline intelligence is described. Cytogenetic evaluation revealed a karyotype of 46, XY, del(13)(q14q22). The relevance of this case to the etiology of autism is discussed.

Citing Articles

Copy number variations in autistic children.

Alhazmi S, Alharthi M, Alzahrani M, Alrofaidi A, Basingab F, Almuhammadi A Biomed Rep. 2024; 21(1):107.

PMID: 38868529 PMC: 11168027. DOI: 10.3892/br.2024.1795.

13q Deletion Syndrome Involving : Characterization of a New Minimal Critical Region for Psychomotor Delay.

Privitera F, Calonaci A, Doddato G, Papa F, Baldassarri M, Pinto A Genes (Basel). 2021; 12(9).

PMID: 34573300 PMC: 8471443. DOI: 10.3390/genes12091318.

NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

Mulhern M, Stumpel C, Stong N, Brunner H, Bier L, Lippa N Ann Neurol. 2018; 84(5):788-795.

PMID: 30269351 PMC: 6249120. DOI: 10.1002/ana.25350.

Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders.

Truong D, Shriberg L, Smith S, Chapman K, Scheer-Cohen A, DeMille M Hum Genet. 2016; 135(12):1329-1341.

PMID: 27535846 PMC: 5065602. DOI: 10.1007/s00439-016-1717-z.

A genome scan for loci shared by autism spectrum disorder and language impairment.

Bartlett C, Hou L, Flax J, Hare A, Cheong S, Fermano Z Am J Psychiatry. 2013; 171(1):72-81.

PMID: 24170272 PMC: 4431698. DOI: 10.1176/appi.ajp.2013.12081103.

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